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Biomedical subjects

H Plauchu

Publications and source records attributed to H Plauchu.

At least 73 records · Page 4Linked to original sources
PubMed1988

A new acro-cranio-facial dysostosis syndrome in sisters.

Two sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down-slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum. Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic distal phalanges; partial duplication of the distal phalanx of the thumb; malformed malleus and incus; tall lumbar vertebrae, increased interpedicular distance, and posterior scalloping; flared iliac wings, narrow supraacetabular regions, acetabular "dysplasia," and coxa valga. Autosomal recessive inheritance is suggested.

Child, Preschool↗
PubMed1988

[Reverse genetics and prenatal diagnosis].

"Reverse" genetics is a research process consisting in finding the gene of a disease, then in "descending" toward the final product that it codes. This reasoning is the reverse of the one normally used which "ascends from the protein to the gene" and can be applied to the discovery of the pathogenic mechanism of a disease. There are numerous spin-offs of this new type of approach for prenatal diagnosis (PND). Thus, the discovery of polymorphic tracers surrounding the gene enables an indirect PND in informative families. Reliability is great if we have many probes at our disposal. Then, discovery of the gene itself permits a direct PND with the use of intragenic probes and synthetic oligonucleotides.

Chromosome Mapping↗
PubMed1988

[The 48,XXXX syndrome: study of psychomotor development from birth to 11 years of age and review of the literature].

A child with four X chromosomes is described. This case and the literature review allow to underline the mental retardation and some other "major" but inconstant signs that are extremely helpful for the early clinical diagnosis. They are hypertelorism, epicanthal fold and genital anomalies. The mental evolution is assessed on an eleven year period. The bad results concern particularly the child's use of language and the complicated works. They become worse with time. The additional X chromosomes Mary Lyon inactivation, perhaps incomplete, is discussed because its determinism. Enzymatic measuring out is our approach to this problem.

Child↗
PubMed1987

[WAGR syndrome, Wilms' tumor, aniridia, gonadoblastoma, mental retardation: a review apropos of 2 cases].

From 41 reviewed cases and 2 personal observations of the WAGR syndrome, the main symptoms and their relative frequency are described: aniridia, mental retardation, Wilms' tumor. Sexual anomalies and gonadoblastoma are less frequent. The chromosomic micro-deletion can be shown by using highly sophisticated cytogenetic techniques, or suspected by blood enzymatic dosage (mainly catalase). Kidney echographic follow-up is highly recommended.

Chromosome Aberrations↗
PubMed1987

[Scriver type autosomal hypophosphatemic rachitis: a family case].

A familial observation of hypophosphatemic rickets with unusual inheritance and evolution, different from that of X linked hypophosphatemia, is reported. The mode of inheritance was autosomal dominant, a father and his son being affected. Severe early signs of rickets and delayed growth were present in both cases. Plasma 1,25 dihydroxyvitamin D and PTH levels were normal. There was no hypercalciuria. Complete cure of rickets and catch-up growth were obtained with the only treatment of vitamin D (40,000 U/day) in the father and of 1 alpha hydroxyvitamin D (1 microgram/day) in the son. This observation is quite similar to the 'autosomal hypophosphatemic bone disease' described by Scriver et al. It illustrates the heterogeneity of familial hypophosphatemia which presently includes 4 different physiopathological entities.

Genes, Dominant↗
PubMed1987

[Systematic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years' of experience in Lyons (France)].

Neonatal screening of Duchenne Muscular Dystrophy using serum CK level measurement has been performed for 10 years in a part of the Rhône-Alpes area (40,000 newborns per year). This test avoids consecutive cases in an affected family by mean of an early genetic counselling. So, 10 potential DMD boys have been avoided (i.e. one out of five of the D.M.D., as a whole which would be born during this same ten year study). Details on familial structures and efficiency of genetic counselling are given, and this efficiency will be increased by the DNA study of the concerned families.

Creatine Kinase↗
PubMed1985

Small, asymptomatic angiomyolipomas of the kidney.

Ultrasound (US) detected 27 small, asymptomatic renal angiomyolipomas in 18 patients. Twenty-five lesions were diffusely hyperechoic and 2 were heterogeneous. Nephrotomography was positive in 8 out of 12 patients (67%), CT in 12/14 (86%), and angiography in 10/14 (71%). Percutaneous fine-needle biopsy confirmed the diagnosis in 8 out of 12 patients (67%). Nephrotomography and angiography were nonspecific, whereas CT and biopsy were most specific because of the presence of fatty tissue. Angiography helped clarify the degree of vascularity of the masses. If the diagnosis can be made preoperatively, more conservative management can be undertaken.

Adolescent↗
PubMed1985

[Trichorhinophalangeal syndrome. Apropos of a case].

The trichorhinopharyngeal (TRP) syndrome type I (Giedion, 1966) is characterized clinically by craniofacial dysmorphism with sparse hair, pear-shaped nose and long philtrum, and abnormalities of the extremities (disabling deformities of the hands and feet). The diagnosis is confirmed by the finding, at radiology, of cone-shaped epiphyses at the base of the middle phalanges. The discovery of patients presenting with other clinical and radiological abnormalities (growth retardation, microcephaly, mental retardation, multiple exostoses) has led to the individualization of a type II syndrome (Langer-Giedion, 1969). We report here a new case of TRP type I and review current data concerning the syndrome, notably the clinical and genetic differences between types I and II. Our case concerned a 43-year-old female patient who consulted for sparse, fine, brittle and very unaesthetic hair obliging her to wear a wig permanently. Examination disclosed other morphological abnormalities, including disabling deformities of the extremities (clinobrachydactyly of the hands and feet which had been present since the age of 6-7 years) and peculiar facial features with a globulous, pear-shaped nose and a long philtrum. She was of small size and had no mental retardation. These clinical symptoms and the finding of cone-shaped epiphyses (type 12) at the base of the middle phalanges led to affirm diagnosis of TRP type I. The case appeared to be solitary. The TRP syndrome was individualized by Giedion in 1966. It is usually detected during the later childhood. In 1969, Langer and Gorlin reported similar features in patients who, in addition, presented with multiple exostoses (hands and feet and body skeleton).(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1985

[A familial case of Rothmund-Thomson syndrome. A case in favor of the uniqueness of the syndrome. Association with osteosarcoma].

A 7 years old girl with Rothmund-Thomson syndrome is described. A detailed study of the dermatologic lesions has been performed. The parent's girl are first cousins and one of her brothers, also having the Rothmund-Thomson syndrome, died from an osteosarcoma of the tibia at the age of 11. This familial observation gives support to the uniqueness of the Rothmund-Thomson syndrome with autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1984

[Acro-coxo-mesomelic dwarfism: a new variety of autosomal recessive dwarfism].

Acro-coxo-mesomelic dwarfism seems to be a new autosomal recessive entity, one compatible with survival. This severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine. Other malformations are clubhand and foot, short malformed fingers, and reduced articular mobility of elbows and hips with radial and femoral dislocations. Skeletal X-rays show the following: delayed bone age; mesomelic shortening of the limbs with cubitus brevus, radius curvus, and mostly fibula agenesis; severe acromelic deformities with clinodactyly of the IIIrd, IVth, and Vth digits and brachyrhizophalangia of the IInd and Vth digits. Brachymetacarpia is diffuse, with a "squashed candle" appearance. The IInd metacarpals and the proximal phalanx of the Vth digits have a peculiar "butterfly wings" appearance. The toes are shortened with a "drumstick" appearance and phalangeal hypoplasia, mostly of the midphalanges; hip dislocation and dysplasia (coxomelic), with hypoplasia of the femoral head and a coxa vara cylindric neck.

Adolescent↗
PubMed1984

[The 49,XYYYY syndrome: apropos of a case detected at birth and followed for 2 1/2 years].

A male child, mentally and physically retarded shows a facial dysmorphy, fingers' abnormalities and a radio-ulnar synostosis. These features are common in the 49,XYYYY syndrom, in which external genitalia, normal at birth, remain undevelopped at the time of puberty. Four others publications through the literature report tetrasomic cells for Y chromosome, but only two of them are real 49,XYYYY (with 88% to 100% of affected cells). Our case has 96,7% tetrasomic cells.

Abnormalities, Multiple↗